Literature DB >> 7449183

Complex chromosome rearrangements. Report of a new case and literature review.

G S Pai, G H Thomas, W Mahoney, B R Migeon.   

Abstract

A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a marker provided biochemical evidence of non-random expression of this Xq locus and suggested that this de novo abnormality in the proband could be paternal in origin--the first such instance to be recorded.

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Year:  1980        PMID： 7449183     DOI： 10.1111/j.1399-0004.1980.tb01790.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  32 in total

1.  Meiotic segregation and interchromosomal effects in a rare (1:2:10) complex chromosomal rearrangement.

Authors:  Gordon Kirkpatrick; Sai Ma
Journal:  J Assist Reprod Genet       Date:  2011-11-22       Impact factor: 3.412

2.  Micro-array analyses decipher exceptional complex familial chromosomal rearrangement.

Authors:  Christine Fauth; Susan M Gribble; Keith M Porter; Montserrat Codina-Pascual; Bee Ling Ng; Jürgen Kraus; Sabine Uhrig; Jürgen Leifheit; Thomas Haaf; Heike Fiegler; Nigel P Carter; Michael R Speicher
Journal:  Hum Genet       Date:  2006-01-03       Impact factor: 4.132

3.  Meiotic outcomes of three-way translocations ascertained in cleavage-stage embryos: refinement of reproductive risks and implications for PGD.

Authors:  Paul N Scriven; Susan M Bint; Angela F Davies; Caroline Mackie Ogilvie
Journal:  Eur J Hum Genet       Date:  2013-10-16       Impact factor: 4.246

4.  Cytogenetic "rogue" cells: what is their frequency, origin, and evolutionary significance?

Authors:  A A Awa; J V Neel
Journal:  Proc Natl Acad Sci U S A       Date:  1986-02       Impact factor: 11.205

5.  Array-CGH detection of three cryptic submicroscopic imbalances in a complex chromosome rearrangement.

Authors:  Yanliang Zhang; Yong Dai; Zhiguang Tu; Qiyun Li; Li Zhang; Linqian Wang
Journal:  J Genet       Date:  2009-12       Impact factor: 1.166

Review 6.  Complex human chromosomal and genomic rearrangements.

Authors:  Feng Zhang; Claudia M B Carvalho; James R Lupski
Journal:  Trends Genet       Date:  2009-06-25       Impact factor: 11.639

7.  Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies.

Authors:  Bruno Faulin Gamba; Antônio Richieri-Costa; Silvia Costa; Carla Rosenberg; Lucilene Arilho Ribeiro-Bicudo
Journal:  Mol Genet Genomics       Date:  2015-06-04       Impact factor: 3.291

8.  Disclosure of five breakpoints in a complex chromosome rearrangement by microdissection and FISH.

Authors:  J J Engelen; W J Loots; J C Albrechts; P C Motoh; J P Fryns; A J Hamers; J P Geraedts
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

9.  Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9p22-->pter and trisomy 10p11.2-->pter and 11q21 analysed by dual and triple colour FISH.

Authors:  P Stankiewicz; E Kostyk; E Bocian; H Stańczak; J Parczewska; E Piatkowska; T Mazurczak; J J Pietrzyk
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

10.  Array CGH detection of a cryptic deletion in a complex chromosome rearrangement.

Authors:  Carla Rosenberg; Jeroen Knijnenburg; Maria de Lourdes Chauffaille; Decio Brunoni; Ana Lucia Catelani; Willem Sloos; Károly Szuhai; Hans J Tanke
Journal:  Hum Genet       Date:  2005-02-22       Impact factor: 4.132
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